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Genetic Diseases, X-Linked

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Definition: Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.     
See Also Chromosomes, Human, X; Genes, X-Linked; Sex Chromosome Aberrations; Sex Chromosome Disorders
Examples Aicardi Syndrome; Androgen-Insensitivity Syndrome; Barth Syndrome; Bulbo-Spinal Atrophy, X-Linked; Choroideremia; Dent Disease; Dyskeratosis Congenita; Ectodermal Dysplasia 1, Anhidrotic; Fabry Disease; Focal Dermal Hypoplasia; Glycogen Storage Disease Type IIb; Glycogen Storage Disease Type VIII; Granulomatous Disease, Chronic; Hemophilia B; Hyper-IgM Immunodeficiency Syndrome, Type 1; Hypophosphatemic Rickets, X-Linked Dominant; Ichthyosis, X-Linked; Isolated Noncompaction of the Ventricular Myocardium; Mental Retardation, X-Linked; Muscular Dystrophy, Duchenne; Muscular Dystrophy, Emery-Dreifuss; Oculocerebrorenal Syndrome; Ornithine Carbamoyltransferase Deficiency Disease; Pelizaeus-Merzbacher Disease; Wiskott-Aldrich Syndrome; X-Linked Combined Immunodeficiency Diseases 		Other names X-Linked Genetic Disease; X Linked Genetic Diseases; Genetic Diseases, X Linked; Genetic Diseases, X Chromosome Linked; Genetic Disease, X-Linked; Diseases, X-Linked Genetic; Disease, X-Linked Genetic; Genetic Diseases, X-Chromosome Linked; X-Linked Genetic Diseases
 
SubstanceCAS Registry & nameCategoriesSource
Panhypopituitarism X-linked  0   *Hypopituitarism *Genetic Diseases, X-Linked.
Chondrodysplasia punctata 2, X-linked dominant  0   *Chondrodysplasia Punctata *Genetic Diseases, X-Linked.
NEMO mutation with immunodeficiency  0   *Ectodermal Dysplasia *Immunologic Deficiency Syndromes *Genetic Diseases, X-Linked.
Hypertrichosis congenital generalized X-linked  0   *Hypertrichosis/congenital *Genetic Diseases, X-Linked.
Reticuloendotheliosis, X-linked  0   *Severe Combined Immunodeficiency *Genetic Diseases, X-Linked.
Nasodigitoacoustic syndrome  0   *Deafness/congenital *Lower Extremity Deformities, Congenital *Genetic Diseases, X-Linked.
Nance-Horan syndrome  0   *Cataract/congenital *Tooth Abnormalities *Genetic Diseases, X-Linked.
Hodgkin disease, X-linked pseudoautosomal  0   *Hodgkin Disease *Genetic Diseases, X-Linked.
Dent disease 1  0   *Genetic Diseases, X-Linked *Nephrolithiasis.
Achromatopsia incomplete, X-linked  0   *Color Vision Defects *Genetic Diseases, X-Linked.
Heterotaxy, visceral, X-linked  0   *Dextrocardia *Genetic Diseases, X-Linked *Heterotaxy Syndrome.
Agammaglobulinemia, X-linked, type 2  0   *Agammaglobulinemia *Genetic Diseases, X-Linked.
Fetal akinesia syndrome, X-linked  0   *Fetal Growth Retardation *Pterygium *Limb Deformities, Congenital *Genetic Diseases, X-Linked.
Microcephaly microcornea syndrome Seemanova type  0   *Cataract *Corneal Diseases *Eye Abnormalities *Growth Disorders *Intellectual Disability *Microcephaly *Genetic Diseases, X-Linked.
Mitral valve prolapse, familial, X-linked  0   *Mitral Valve Prolapse *Genetic Diseases, X-Linked.
Bruton type agammaglobulinemia  0   *Agammaglobulinemia *Genetic Diseases, X-Linked.
Spinocerebellar ataxia, X-linked, 3  0   *Machado-Joseph Disease *Genetic Diseases, X-Linked.
Properdin deficiency, X-linked  0   *Genetic Diseases, X-Linked Properdin/deficiency.
Parkinsonism, early onset with mental retardation  0   *Basal Ganglia Diseases *Intellectual Disability *Parkinson Disease *Genetic Diseases, X-Linked.
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked  0   *Agammaglobulinemia *Genetic Diseases, X-Linked Human Growth Hormone/deficiency.
Optic atrophy, X-linked  0   *Optic Atrophy/congenital *Genetic Diseases, X-Linked.
Branchial arch syndrome X-linked  0   *Mandibulofacial Dysostosis *Microcephaly *Hearing Loss *Genetic Diseases, X-Linked Ear/abnormalities Neck/abnormalities.
Spastic paraplegia 2, X-linked  0   *Spastic Paraplegia, Hereditary *Genetic Diseases, X-Linked.
X-linked adrenal hypoplasia congenita  0   *Adrenal Hyperplasia, Congenital *Genetic Diseases, X-Linked.
Wieacker syndrome  0   *Apraxias *Contracture *Muscular Atrophy *Ophthalmoplegia *Genetic Diseases, X-Linked.
Wells Jankovic syndrome  0   *Adrenoleukodystrophy *Deafness *Muscle Spasticity *Paralysis *Genetic Diseases, X-Linked.
Sketetal dysplasia coarse facies mental retardation  0   *Intellectual Disability *Osteochondrodysplasias *Genetic Diseases, X-Linked.
Spastic paraplegia 16, X-linked  0   *Spastic Paraplegia, Hereditary *Genetic Diseases, X-Linked.
Vasquez Hurst Sotos syndrome  0   *Gynecomastia *Hypogonadism *Intellectual Disability *Obesity *Genetic Diseases, X-Linked. J Pediatr. 1979;94(1):56-60
VACTERL association with hydrocephaly, X-linked  0   *Hydrocephalus *Heart Defects, Congenital *Limb Deformities, Congenital *Genetic Diseases, X-Linked Anal Canal/abnormalities Esophagus/abnormalities Kidney/abnormalities Spine/abnormalities Trachea/abnormalities.
X-linked tetra-amelia  0   *Ectromelia *Genetic Diseases, X-Linked.
Cleft palate X-linked  0   *Cleft Palate *Genetic Diseases, X-Linked.
Neural tube defects X-linked  0   *Neural Tube Defects *Genetic Diseases, X-Linked.
Angioma serpiginosum, X-linked  0   *Skin Diseases, Vascular/congenital *Genetic Diseases, X-Linked.
Anencephaly and spina bifida X-linked  0   *Anencephaly *Spinal Dysraphism *Genetic Diseases, X-Linked.
Hydrocephalus, X-linked  0   *Hydrocephalus *Genetic Diseases, X-Linked Cerebral Aqueduct/abnormalities.
Congenital alopecia X-linked  0   *Alopecia *Genetic Diseases, X-Linked.
Cone dystrophy, x-linked, with tapetal-like sheen  0   *Retinitis Pigmentosa *Genetic Diseases, X-Linked.
Chondrodysplasia punctata, brachytelephalangic  0   *Chondrodysplasia Punctata *Genetic Diseases, X-Linked.
Split hand foot deformity  0   *Limb Deformities, Congenital *Genetic Diseases, X-Linked.
Dyggve-Melchior-Clausen syndrome  0   *Dwarfism *Intellectual Disability *Osteochondrodysplasias/congenital *Genetic Diseases, X-Linked.
Cardiac valvular dysplasia, X-linked  0   *Heart Defects, Congenital *Mitral Valve Prolapse *Myxoma *Genetic Diseases, X-Linked.
Cantu syndrome  0   *Cardiomegaly *Hypertrichosis *Osteochondrodysplasias *Genetic Diseases, X-Linked.
Abruzzo Erickson syndrome  0   *Hearing Loss, Conductive *Limb Deformities, Congenital *Maxillofacial Abnormalities *Genetic Diseases, X-Linked.
Congenital idiopathic intestinal pseudoobstruction  0   *Intestinal Pseudo-Obstruction/congenital *Genetic Diseases, X-Linked.
Ataxia-deafness syndrome  0   *Cerebellar Ataxia *Hearing Loss, Bilateral/congenital *Genetic Diseases, X-Linked.
Arts syndrome  0   *Ataxia *Genetic Diseases, X-Linked *Deaf-Blind Disorders.
Arthrogryposis multiplex congenita, distal, X-linked  0   *Arthrogryposis *Genetic Diseases, X-Linked.
Cataract, congenital, with microcornea or slight microphthalmia  0   *Cataract/congenital *Microphthalmos *Genetic Diseases, X-Linked.
Aarskog syndrome  0   *Dwarfism *Hand Deformities, Congenital *Heart Defects, Congenital *Genetic Diseases, X-Linked Face/abnormalities Genitalia, Male/abnormalities.
Radius absent anogenital anomalies  0   *Bone Diseases, Developmental *Hydrocephalus *Hypospadias *Genetic Diseases, X-Linked Fingers/abnormalities Radius/abnormalities.
AMELX protein, human  0   *Amelogenin Amelogenesis Imperfecta Genetic Diseases, X-Linked.
Mid1 protein, human  0   *Microtubule Proteins *Nuclear Proteins *Transcription Factors Genetic Diseases, X-Linked. Hum Mol Genet. 1998 Feb;7(2):299-305; Nat Genet 1997 Nov;17(3):285-91

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